Feature-IOPS-4392-Genomic Test Package: Incoming Order Requirement Conformance

ActivityDefinition/DGTS-ActivityDefinition-Example.json → ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json

@@ -1,6 +1,6 @@
 {
  "resourceType": "ActivityDefinition",
- "id": "DGTS-ActivityDefinition-Example",
+ "id": "ActivityDefinition-DGTS-GT1-Example",
  "url": "https://fhir.nhs.uk/ActivityDefinition/GT1",
  "identifier": [
   {
@@ -18,27 +18,11 @@
  "version": "1.0",
  "status": "active",
  "experimental": false,
- "useContext": [
-  {
-   "code": {
-    "code": "focus"
-   },
-   "valueCodeableConcept": {
-    "coding": [
-     {
-      "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
-      "code": "diagnostic",
-      "display": "Diagnostic"
-     }
-    ]
-   }
-  }
- ],
  "code": {
   "coding": [
    {
-    "code": "targeted-variant-analysis",
-    "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs"
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
    }
   ]
  },
@@ -58,4 +42,4 @@
    "display": "GMS Rare Disease"
   }
  ]
-}
+}

ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json

@@ -0,0 +1,35 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT103-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT103",
+ "status": "active",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT103"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R375.1",
+   "use": "old"
+  }
+ ],
+ "title": "Family follow-up testing to aid variant interpretation - Targeted variant testing",
+  "name": "GT103_Family follow-up testing to aid variant interpretation",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json

@@ -0,0 +1,35 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT1124-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT1124",
+ "status": "active",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT1124"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R448.1",
+   "use": "old"
+  }
+ ],
+ "title": "Prenatal Diagnosis for known variant(s) - Targeted variant testing",
+  "name": "GT1124_Prenatal Diagnosis for known variant(s) - Targeted variant testing",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json

@@ -0,0 +1,37 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-192-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT192",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT192"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R387.1",
+   "use": "old"
+  }
+ ],
+ "title": "Reanalysis of existing data",
+ "name": "GT192_Reanalysis-of-existing-data",
+ "version": "1.0",
+ "status": "active",
+ "experimental": false,
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "sequencing"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json

@@ -0,0 +1,35 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT36-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT36",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT36"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R242.1",
+   "use": "old"
+  }
+ ],
+ "status": "active",
+ "title": "Predictive testing for known variant(s) - Targeted variant testing",
+ "name": "GT36_Targeted-variant-testing",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json

@@ -0,0 +1,35 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT417-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT417",
+ "status": "active",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT417"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R263.1",
+   "use": "old"
+  }
+ ],
+ "title": "Confirmation of uniparental disomy",
+  "name": "GT417_Confirmation of uniparental disomy",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json

@@ -0,0 +1,42 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT46-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT46",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT46"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R69.5",
+   "use": "old"
+  }
+ ],
+ "status": "active",
+ "title": "Hypotonic infant - WGS",
+  "name": "GT46_Hypotonic-infant-WGS",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "whole-genome-sequencing"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/GT46"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ],
+ "relatedArtifact": [
+  {
+   "type": "composed-of",
+   "url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1",
+   "display": "Hypotonic infant"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json

@@ -0,0 +1,35 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT732-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT732",
+ "status": "active",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT732"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R244.1",
+   "use": "old"
+  }
+ ],
+ "title": "Carrier testing for known variant(s) - Targeted variant testing",
+  "name": "GT732_Carrier testing for known variant(s) - Targeted variant testing",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json

@@ -0,0 +1,35 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT858-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT858",
+ "status": "active",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT858"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R443.1",
+   "use": "old"
+  }
+ ],
+ "title": "Confirmation test",
+  "name": "GT858_Confirmation test",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}

ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json

@@ -0,0 +1,35 @@
+{
+ "resourceType": "ActivityDefinition",
+ "id": "ActivityDefinition-DGTS-GT897-Example",
+ "url": "https://fhir.nhs.uk/ActivityDefinition/GT897",
+ "status": "active",
+ "identifier": [
+  {
+   "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
+   "value": "GT897"
+  },
+  {
+   "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
+   "value": "R240.1",
+   "use": "old"
+  }
+ ],
+ "title": "Diagnostic testing for known variant(s) - Targeted variant testing",
+  "name": "GT897_Diagnostic testing for known variant(s) - Targeted variant testing",
+ "code": {
+  "coding": [
+   {
+    "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
+    "code": "targeted-assay"
+   }
+  ]
+ },
+ "library": [
+  "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
+ ],
+ "specimenRequirement": [
+  {
+   "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+  }
+ ]
+}